MovDisordV3, Main, Exploration, bibRecord, 002518

Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations

Identifieur interne : 002518 ( Main/Exploration ); précédent : 002517; suivant : 002519

Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations

Auteurs : Sarah Teixeira Camargos [Brésil] ; Leonardo Oliveira Dornas [Brésil] ; Parastoo Momeni [États-Unis] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Francisco Cardoso [Brésil]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0218142

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Mutation, Brésil.
Wicri :
- geographic : Brésil.

English descriptors

KwdEn :
- Brazil, Mutation, Nervous system diseases, Parkinson disease, Parkinsonism.

Abstract

The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals. During the period of study (January through December, 2006), we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n = 45) was 34.8 ± 5.4 years (mean ± standard deviation). The age at onset in the familial late-onset PD patients (n = 8) was 52.3 ± 12.2 years. In the early onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition, we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene, but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.

Affiliations:

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Le document en format XML

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<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health</s1>
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<author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name>
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<s2>Minas Gerais</s2>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations</title>
<author><name sortKey="Teixeira Camargos, Sarah" sort="Teixeira Camargos, Sarah" uniqKey="Teixeira Camargos S" first="Sarah" last="Teixeira Camargos">Sarah Teixeira Camargos</name>
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<author><name sortKey="Dornas, Leonardo Oliveira" sort="Dornas, Leonardo Oliveira" uniqKey="Dornas L" first="Leonardo Oliveira" last="Dornas">Leonardo Oliveira Dornas</name>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Reta Lila Weston Institute of Neurological Studies, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
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<sZ>5 aut.</sZ>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
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<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
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<country>Royaume-Uni</country>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health</s1>
<s2>Maryland</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Movement Disorders Group, Neurology Service, Department of Internal Medicine, Federal University of Minas Gerais</s1>
<s2>Minas Gerais</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brazil</term>
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<term>Maladie de Parkinson</term>
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<front><div type="abstract" xml:lang="en">The aim of the study was to evaluate the frequency and to perform phenotypic and genotypic characterization of familial Parkinsonism and early onset Parkinson's disease (EOPD) in a Brazilian movement disorder unit. We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals. During the period of study (January through December, 2006), we examined 575 consecutive patients of whom 226 (39.3%) met the diagnosis of Parkinsonism and idiopathic Parkinson's disease (IPD) was diagnosed in 202 of the latter. Of the IPD cases, 45 (22.3%) had EOPD. The age at onset in the EOPD cases (n = 45) was 34.8 ± 5.4 years (mean ± standard deviation). The age at onset in the familial late-onset PD patients (n = 8) was 52.3 ± 12.2 years. In the early onset cases, we identified five known mutations in PRKN, two single heterozygous and three compound heterozygous (P153R, T240M, 255Adel, W54R, V3I); in addition, we identified one novel mutation in PINK1 (homozygous deletion of exon 7). In the familial cases (late onset), 1 patient had a novel LRRK2 variant, Q923H, but no SNCA mutations were identified. We have demonstrated that EOPD accounts for a high frequency of IPD cases in our tertiary referral center. PRKN was the most commonly mutated gene, but we also identified a novel mutation in PINK1 and a novel variant in LRRK2.</div>
</front>
</TEI>
<affiliations><list><country><li>Brésil</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
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<li>Grand Londres</li>
<li>Maryland</li>
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<li>Texas</li>
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<tree><country name="Brésil"><region name="Minas Gerais"><name sortKey="Teixeira Camargos, Sarah" sort="Teixeira Camargos, Sarah" uniqKey="Teixeira Camargos S" first="Sarah" last="Teixeira Camargos">Sarah Teixeira Camargos</name>
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<name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name>
<name sortKey="Dornas, Leonardo Oliveira" sort="Dornas, Leonardo Oliveira" uniqKey="Dornas L" first="Leonardo Oliveira" last="Dornas">Leonardo Oliveira Dornas</name>
</country>
<country name="États-Unis"><region name="Texas"><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name>
</region>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees (neurologue)</name>
</region>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations

Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic : Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri